Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 9383 of 10600

Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2024-04-08 | PMID 38368933
Fazeli Elnaz, Fazeli Elham, Fojtík Petr and 2 more
Genes: SORL1
Retromer-dependent lysosomal stress in Parkinson's disease.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2024-04-08 | PMID 38368937
Alessi Dario R, Cullen Peter J, Cookson Mark and 2 more
Genes: VPS35
Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2024-04-08 | PMID 38368938
Bhore Noopur, Bogacki Erin C, O'Callaghan Benjamin and 3 more
Translational insights and overall survival in the U31402-A-U102 study of patritumab deruxtecan (HER3-DXd) in EGFR-mutated NSCLC.
Annals of oncology : official journal of the European Society for Medical Oncology | 2024-05-01 | PMID 38369013
Yu H A, Baik C, Kim D-W and 21 more
Genes: EGFR, ERBB3, TOP1
Donor KIR2DL1 Allelic Polymorphism Influences Posthematopoietic Progenitor Cell Transplantation Outcomes in the T Cell Depleted and Reduced Intensity Conditioning Setting.
Transplantation and cellular therapy | 2024-05-01 | PMID 38369017
Wright Paul A, van de Pasch Loes A L, Dignan Fiona L and 11 more
Sex-specific modulation of safety learning in Shank2-deficient mice.
Progress in neuro-psychopharmacology & biological psychiatry | 2024-06-08 | PMID 38369099
Kreutzmann Judith C, Kahl Evelyn, Fendt Markus
Whole-Genome Sequencing Analysis of Male Breast Cancer Unveils Novel Structural Events and Potential Therapeutic Targets.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2024-04-01 | PMID 38369186
Al Assaad Majd, Michaud Olivier, Semaan Alissa and 13 more
Genes: FGFR1, GATA3, ARID1A, ARID2, BRCA2, ESR1, FAT1, NF1
Recurrent Wnt Pathway and ARID1A Alterations in Sinonasal Olfactory Carcinoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2024-05-01 | PMID 38369189
Rooper Lisa M, Agaimy Abbas, Bell Diana and 12 more
Genes: IDH2, ARID1A, CTNNB1, PPP2R1A, RUNX1
Unraveling the Significance of MET Focal Amplification in Lung Cancer: Integrative NGS, FISH, and IHC Investigation.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2024-04-01 | PMID 38369190
Xiang Chan, Lv Xinze, Chen Ke and 10 more
Genes: MET
Allele-specific antisense oligonucleotides for the treatment of BEST1-related dominantly inherited retinal diseases: An in vitro model.
Experimental eye research | 2024-04-01 | PMID 38369231
Karaosmanoglu Beren, Imren Gozde, Utine Eda and 2 more
Genes: BEST1
Comprehensive Molecular Profiling and Clinicopathological Characteristics of Gastric-Type Mucinous Carcinoma of the Uterine Cervix in Japanese Women.
The Kurume medical journal | 2024-05-14 | PMID 38369337
Nasu Hiroki, Nishio Shin, Park Jongmyung and 7 more
Genes: TP53, STK11, APC, ATRX, CDKN2A, KRAS
A Family with Familial Hypobetalipoproteinemia Caused by a c.1468C>T in APOB.
Internal medicine (Tokyo, Japan) | 2024-10-01 | PMID 38369355
Tada Hayato, Kojima Nobuko, Nomura Akihiro and 1 more
ABCA4 variant screening in a Turkish cohort with Stargardt disease.
Ophthalmic genetics | 2024-04-01 | PMID 38369462
Sinim Kahraman Neslihan, Özgüç Çalışkan Büşra, Kandemir Nefise and 3 more
Genes: ABCA4
Genotype data for 60 SNP genetic markers associated with eye, hair, skin color, ABO blood group, sex, core Y-chromosome haplogroups in Kazakh population.
BMC research notes | 2024-02-18 | PMID 38369539
Bukayev Alizhan, Aidarov Baglan, Fesenko Denis and 11 more
Fructose regulates the pentose phosphate pathway and induces an inflammatory and resolution phenotype in Kupffer cells.
Scientific reports | 2024-02-18 | PMID 38369593
Lodge Mareca, Scheidemantle Grace, Adams Victoria R and 7 more
Optimal sequence of LT for symptomatic BM in EGFR-mutant NSCLC: a comparative study of first-line EGFR-TKIs with/without upfront LT.
Journal of cancer research and clinical oncology | 2024-02-19 | PMID 38369644
Niu Lishui, Wu Honghua, Gao Ruihuan and 7 more
Identification and characterization of candidate genes for primary root length in Asiatic cotton (Gossypium arboreum L.).
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2024-02-19 | PMID 38369650
Hu Daowu, Zhao Zibo, Nazir Mian Faisal and 11 more
Development of a novel five dye insertion/deletion (INDEL) panel for ancestry determination.
International journal of legal medicine | 2024-07-01 | PMID 38369682
Avellaneda Lucio L, Johnson Damani T, Gutierrez Ryan M and 5 more
Genetic biomarkers of methotrexate response and safety in Crohn's disease: Data from the Spanish ENEIDA registry.
British journal of clinical pharmacology | 2024-05-01 | PMID 38369687
Salazar Juliana, Garcia-Planella Esther, Fernández-Clotet Agnès and 17 more
Shared genomic segments analysis identifies MHC class I and class III molecules as genetic risk factors for juvenile idiopathic arthritis.
HGG advances | 2024-04-11 | PMID 38369753
Avery Cecile N, Russell Nicole D, Steely Cody J and 4 more
Single-cell analysis identified POSTN+ cells associated with the aggressive phenotype and risk of esophageal squamous cell carcinoma.
HGG advances | 2024-04-11 | PMID 38369754
Tan Yuqian, Song Lina, Ma Jialing and 7 more
Genes: POSTN, CAV1, COL3A1, COL6A1, PRRX1, TAGLN
OcBSA: An NGS-based bulk segregant analysis tool for outcross populations.
Molecular plant | 2024-04-01 | PMID 38369755
Zhang Lingkui, Duan Yanfeng, Zhang Zewei and 7 more
Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma.
The American journal of surgical pathology | 2024-06-01 | PMID 38369783
Williams Erik A, Vegas Isabella, El-Senduny Fardous F and 16 more
Genes: AXL, CDKN2A, RB1, TP53
ESPGHAN recommendations on treatment of chronic hepatitis C virus infection in adolescents and children including those living in resource-limited settings.
Journal of pediatric gastroenterology and nutrition | 2024-04-01 | PMID 38369891
Indolfi Giuseppe, Gonzalez-Peralta Regino P, Jonas Maureen M and 5 more
Genetically predicted retinal vascular occlusion in relation to cardiovascular diseases: A bidirectional two-sample Mendelian randomization analysis.
Annals of human genetics | 2024-07-01 | PMID 38369935
Zhang Jun, Pan Yiji, Yang Hongxia and 3 more
A Multilayered Post-Genome-Wide Association Study Analysis Pipeline Defines Functional Variants and Target Genes for Systemic Lupus Erythematosus.
Arthritis & rheumatology (Hoboken, N.J.) | 2024-07-01 | PMID 38369936
Fazel-Najafabadi Mehdi, Looger Loren L, Rallabandi Harikrishna Reddy and 1 more
Data-driven disease progression model of Parkinson's disease and effect of sex and genetic variants.
CPT: pharmacometrics & systems pharmacology | 2024-04-01 | PMID 38369942
Jin Ryota, Yoshioka Hideki, Sato Hiromi and 1 more
Genetic Prediction of Smoking Cessation Medication Side Effects: A Genome-Wide Investigation of Abnormal Dreams on Varenicline.
Clinical pharmacology and therapeutics | 2024-06-01 | PMID 38369951
Chenoweth Meghan J, Kim Yong Jae, Nollen Nikki L and 5 more
Genes: ICAM5
Fine-scale mapping of chromosome 9q22.33 identifies candidate causal variant in ovarian cancer.
PeerJ | 2024-01-01 | PMID 38371376
Xing Tongyu, Zhao Yanrui, Wang Lili and 10 more
Heartache and Heartbreak: An Observational and Mendelian Randomization Study.
Global heart | 2024-01-01 | PMID 38371655
Cai Dihui, Xia Mengming, Chen Xuhui and 6 more
Effects of the lncRNA MALAT1 gene region rs664589 site mutation on acute myocardial infarction in Chinese Han.
Cellular and molecular biology (Noisy-le-Grand, France) | 2024-01-31 | PMID 38372103
Yu Huamin, Tu Sijia, Shen Chaofeng and 5 more
A Study of transcription factor MEF2A gene polymorphisms in patients with coronary artery disease.
Cellular and molecular biology (Noisy-le-Grand, France) | 2024-01-31 | PMID 38372109
Muhammad Sulaiman Kazhal
Evolved changes in phenotype across skeletal muscles in deer mice native to high altitude.
American journal of physiology. Regulatory, integrative and comparative physiology | 2024-04-01 | PMID 38372126
Garrett Emily J, Prasad Srikripa K, Schweizer Rena M and 2 more
Genes: CS
Highly Sensitive Detection of T790 M with a Three-Level Characteristic Current by Thymine-Hg(II)-Thymine in the α-Hemolysin Nanopore.
Analytical chemistry | 2024-02-27 | PMID 38372205
Li Yaping, Yang Yongqi, Zhong Chunmeng and 2 more
Sex differences in blood pressure phenotypes over time - the HELIUS study.
Journal of hypertension | 2024-06-01 | PMID 38372386
Vriend Esther M C, Bouwmeester Thomas A, Franco Oscar H and 4 more
Prevalence of CYP2D6 structural variation in large retrospective study.
Pharmacogenetics and genomics | 2024-06-01 | PMID 38372405
Frear Samantha, Sherman Ashley, Rule Don and 1 more
The burden of anthropogenic changes and mutation load in a critically endangered harrier from the Reunion biodiversity hotspot, Circus maillardi.
Molecular ecology | 2024-03-01 | PMID 38372440
Bourgeois Yann, Warren Ben H, Augiron Steve
Characterization of the novel HLA-C*05:286 allele by sequencing-based typing.
HLA | 2024-02-01 | PMID 38372565
Cargou Marine, Elsermans Vincent, Top Isabelle and 2 more
Next-generation sequencing identifies four novel HLA class I alleles with nucleotide substitutions in the 3' UTR.
HLA | 2024-02-01 | PMID 38372571
Niño Ramírez Jairo Eduardo, Gil-Etayo Francisco Javier, Jiménez Hernaz Isabel and 2 more
Genomic full-length sequence of the HLA-B*49:11 allele was identified in a Chinese bone marrow donor.
HLA | 2024-02-01 | PMID 38372573
Chi Xiaoyun, Wang Yingchun, Liu Li and 2 more
Characterization of the novel HLA-C*01:263 allele by sequencing-based typing.
HLA | 2024-02-01 | PMID 38372574
Cargou Marine, Elsermans Vincent, Top Isabelle and 2 more
Characterization of the novel HLA-DRB1*16:76 allele in a Chinese individual.
HLA | 2024-02-01 | PMID 38372582
Ren Zhixiang, Li Pei-Heng, Hao Qing and 2 more
Characterization of the novel HLA-DQB1*03:516 allele by next-generation sequencing.
HLA | 2024-02-01 | PMID 38372583
Bian Cheng, Wang Zi-Hao, Cheng Zi-An and 2 more
Discovery of the novel HLA-C*03:649 allele in a Taiwanese individual.
HLA | 2024-02-01 | PMID 38372585
Yang Kuo-Liang, Lin Py-Yu
Characterization of the novel HLA-B*51:394Q allele by sequencing-based typing.
HLA | 2024-02-01 | PMID 38372598
Cargou Marine, Elsermans Vincent, Top Isabelle and 2 more
Involvement of Peptidoglycan Receptor Proteins in Mediating the Growth-Promoting Effects of Bacillus pumilus TUAT1 in Arabidopsis thaliana.
Plant & cell physiology | 2024-05-30 | PMID 38372612
Islam Md Monirul, Agake Shin-Ichiro, Ito Takehiro and 5 more
Two novel HLA-DRB3 alleles identified in Brazilian bone marrow donors: HLA-DRB3*01:122 and -DRB3*01:123.
HLA | 2024-02-01 | PMID 38372613
de Oliveira Anthony Marçal Leão, Massi Fernanda Pelisson, Pinto Larissa Danielle Bahls and 2 more
A novel HLA-C*02:10 variant, HLA-C*02:10:09, identified in a healthy individual from Brazil.
HLA | 2024-02-01 | PMID 38372615
Stelet Vinícius N, Romero Matilde, Cita Rafael F and 2 more
Identification of the novel HLA-C*01:65:02 allele by next-generation sequencing.
HLA | 2024-02-01 | PMID 38372620
López-Pérez Juan, Martínez-Lostao Luis, Inda-Landaluce Mercedes
Recognition of the HLA-A*02:840 allele, a variant of A*02:07:01:01, in a Taiwanese individual.
HLA | 2024-02-01 | PMID 38372625
Yang Kuo-Liang, Lin Py-Yu
Association of HLA gene polymorphisms with Helicobacter pylori related gastric cancer-a systematic review.
HLA | 2024-02-01 | PMID 38372631
Mahmud Md Toslim, Ahmed Feroz, Rana Md Jowel and 3 more
Evaluation of rapid optimized flow cytometry crossmatch (Halifaster) in living donor kidney transplantation.
HLA | 2024-02-01 | PMID 38372638
Ramalhete Luis, Araújo Rúben, Teixeira Cristiana and 4 more
Deterministic reprogramming and signaling activation following targeted therapy in non-small cell lung cancer driven by mutations or oncogenic fusions.
Expert opinion on investigational drugs | 2024-03-01 | PMID 38372666
Rosell Rafael, Pedraz-Valdunciel Carlos, Jain Anisha and 2 more
Genetic screen identified PRMT5 as a neuroprotection target against cerebral ischemia.
eLife | 2024-02-19 | PMID 38372724
Wu Haoyang, Lv Peiyuan, Wang Jinyu and 6 more
Association of MICA and NKG2D genetic variants with disease susceptibility and outcome of anti-TNF therapy in patients with axial spondyloarthritis.
Clinical and experimental rheumatology | 2024-07-01 | PMID 38372728
Wielińska Joanna, Bugaj Bartosz, Świerkot Jerzy and 4 more
Rheumatoid arthritis synovial fluid shows enrichment of T-cells producing GMCSF which are polyfunctional for TNFα and IFNγ.
Clinical and experimental rheumatology | 2024-07-01 | PMID 38372731
Khullar Aastha, Dhir Varun, Saikia Biman and 9 more
Current look at the most promising proteomic and glycomic biomarkers of bladder cancer.
Journal of cancer research and clinical oncology | 2024-02-19 | PMID 38372785
Harsanyi Stefan, Kianickova Kristina, Katrlik Jaroslav and 2 more
Echogenomics: Echocardiography in Heritable Aortopathies.
Current cardiology reports | 2024-03-01 | PMID 38372858
Hunter-Adamson Lyndsey, Tierney Seda
Phenotypic Transitions the Processes Involved in Regulation of Growth and Proangiogenic Properties of Stem Cells, Cancer Stem Cells and Circulating Tumor Cells.
Stem cell reviews and reports | 2024-05-01 | PMID 38372877
Kulus Magdalena, Farzaneh Maryam, Bryja Artur and 13 more
Serial measurements of SIRS and SEP scores to identify unique phenotypes of sepsis.
Internal and emergency medicine | 2024-06-01 | PMID 38372887
Nguyen Phuong Hoang, Fay Kayla Ashley, English Jada Mae and 1 more
Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.
Human cell | 2024-05-01 | PMID 38372889
Chen Die, Su Jimei, Huang Xueying and 7 more
Telomere Biology Disorder: A Focus on Gastrointestinal and Hepatic Manifestations.
Current hematologic malignancy reports | 2024-04-01 | PMID 38372947
Warsame Fatima, Simonetto Douglas A
Comparative phenotype and transcriptome analysis revealed the role of ferric uptake regulator (Fur) in the virulence of Vibrio harveyi isolated from diseased American eel (Anguilla rostrata).
Journal of fish diseases | 2024-06-01 | PMID 38373044
Wan Qijuan, Zhai Shaowei, Chen Minxia and 2 more
Mutation of novel ethanol-responsive lncRNA Gm41261 impacts ethanol-related behavioral responses in mice.
Genes, brain, and behavior | 2024-02-01 | PMID 38373108
Plasil S L, Farris S P, Blednov Y and 7 more
Genes: GFAP
Human papillomavirus genotyping in high-grade vaginal intraepithelial neoplasia: A multicentric Italian study.
Journal of medical virology | 2024-02-01 | PMID 38373185
Preti Mario, Boldorini Renzo, Gallio Niccolò and 10 more
Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
The Journal of clinical endocrinology and metabolism | 2024-08-13 | PMID 38373250
Tanase-Nakao Kanako, Iwahashi-Odano Megumi, Sugisawa Chiho and 25 more
Genes: TG
Patterns of genetic divergence in the Rio Grande cooter (Pseudemys gorzugi), a riverine turtle inhabiting an arid and anthropogenically modified system.
The Journal of heredity | 2024-05-09 | PMID 38373252
Vandewege Michael W, Gutierrez Javier, Davis Drew R and 2 more
Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.
Neurology | 2024-03-12 | PMID 38373275
Verhoeven Jamie I, Kramer Jasper, Seeger Juergen and 9 more
Genes: ATP2A1
Meta-analysis of MTHFR C677T polymorphism and type 2 diabetes mellitus in MENA region.
Diabetes & metabolic syndrome | 2024-02-01 | PMID 38373383
El Alami Houda, Ouenzar Faissal, Errafii Khaoula and 9 more
Unraveling Dravet Syndrome: Exploring the complex effects of sodium channel mutations on neuronal networks.
Science progress | 2024-01-01 | PMID 38373395
Doorn Nina
Genes: SCN1A
Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.
Nephron | 2024-01-01 | PMID 38373411
Riguetti Michelle Tiveron Passos, Varela-Calais Patricia, Fernandes Danilo E and 4 more
The catalytic action of human d-lactate dehydrogenase is severely inhibited by oxalate and is impaired by mutations triggering d-lactate acidosis.
Archives of biochemistry and biophysics | 2024-04-01 | PMID 38373542
Stefan Alessandra, Mucchi Alberto, Hochkoeppler Alejandro
The cellular SFPQ protein as a positive factor in the HIV-1 integration.
Biochimie | 2024-07-01 | PMID 38373651
Kikhai Тatiana, Agapkina Yulia, Silkina Maria and 2 more
SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review.
Gene | 2024-05-25 | PMID 38373659
Lin Zezhang, Liang Xiongda, Wei Xiaofeng and 5 more
Intestinal Mg2+ accumulation induced by cnnm mutations decreases the body size by suppressing TORC2 signaling in Caenorhabditis elegans.
Developmental biology | 2024-05-01 | PMID 38373693
Hashizume Osamu, Kawabe Tomofumi, Funato Yosuke and 1 more
AlphaFold2-Enabled Atomistic Modeling of Structure, Conformational Ensembles, and Binding Energetics of the SARS-CoV-2 Omicron BA.2.86 Spike Protein with ACE2 Host Receptor and Antibodies: Compensatory Functional Effects of Binding Hotspots in Modulating Mechanisms of Receptor Binding and Immune Escape.
Journal of chemical information and modeling | 2024-03-11 | PMID 38373700
Raisinghani Nishank, Alshahrani Mohammed, Gupta Grace and 3 more
Evaluating the TaqMan Jra-Genotyping Method for Rapidly Predicting the Presence of Anti-Jra Antibodies.
Annals of laboratory medicine | 2024-09-01 | PMID 38373791
Koo Yu-Kyung, Kwon Soon Sung, Suh Eun Jung and 6 more
KLF2 enhancer variant rs4808485 increases lupus risk by modulating inflammasome machinery and cellular homoeostasis.
Annals of the rheumatic diseases | 2024-06-12 | PMID 38373841
Singh Manish Kumar, Rallabandi Harikrishna Reddy, Zhou Xu-Jie and 6 more
Effectiveness of DArTseq markers application in genetic diversity and population structure of indigenous chickens in Eastern Province of Rwanda.
BMC genomics | 2024-02-19 | PMID 38373904
Mujyambere Valentin, Adomako Kwaku, Olympio Oscar Simon
Difference analysis and characteristics of incompatibility group plasmid replicons in gram-negative bacteria with different antimicrobial phenotypes in Henan, China.
BMC microbiology | 2024-02-19 | PMID 38373913
Chen Ruyan, Li Chenyu, Ge Haoyu and 5 more
Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.
BMC pediatrics | 2024-02-19 | PMID 38373926
Wang Yirou, Xu Yufei, Chen Yao and 5 more
Genes: KDM6A
The difference between dacomitinib and afatinib in effectiveness and safety in first-line treatment of patients with advanced EGFR-mutant non-small cell lung cancer: a real-world observational study.
BMC cancer | 2024-02-19 | PMID 38373960
Cheng Wen-Chien, Lin Chi-Chien, Liao Wei-Chih and 5 more
Phenotype-specific therapeutic efficacy of ilofotase alfa in patients with sepsis-associated acute kidney injury.
Critical care (London, England) | 2024-02-19 | PMID 38373981
Bruse Niklas, Pardali Katerina, Kraan Maarten and 2 more
Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.
Genome medicine | 2024-02-19 | PMID 38373998
Xiang Ruidong, Kelemen Martin, Xu Yu and 4 more
Genetic influences on circulating retinol and its relationship to human health.
Nature communications | 2024-02-19 | PMID 38374065
Reay William R, Kiltschewskij Dylan J, Di Biase Maria A and 9 more
Genes: RBP4, TTR
A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.
Hereditas | 2024-02-20 | PMID 38374144
Xie Xiaoying, Du Juan, Geng Shunkang and 3 more
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.
Journal of human genetics | 2024-05-01 | PMID 38374166
Zhang Xiao-Man, Xu Kai-Li, Kong Jing-Hui and 10 more
Grain iron and zinc content is independent of anthocyanin accumulation in pigmented rice genotypes of Northeast region of India.
Scientific reports | 2024-02-19 | PMID 38374189
Gogoi Smrita, Singh Sanjay, Swamy B P Mallikarjuna and 5 more
Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental phenotypes in two zebrafish models.
Translational psychiatry | 2024-02-19 | PMID 38374212
Antón-Galindo Ester, Adel Maja R, García-González Judit and 7 more
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.
Nature | 2024-03-01 | PMID 38374256
Suzuki Ken, Hatzikotoulas Konstantinos, Southam Lorraine and 360 more
Effects of different KRAS mutants and Ki67 expression on diagnosis and prognosis in lung adenocarcinoma.
Scientific reports | 2024-02-19 | PMID 38374309
Wang Jun, Dong Liwen, Zheng Zhaowei and 6 more
T790M mutation upconversion fluorescence biosensor via mild ATRP strategy and site-specific DNA cleavage of restriction endonuclease.
Mikrochimica acta | 2024-02-20 | PMID 38374311
Liu Yanju, Guo Liang, Hou Mengyuan and 4 more
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Nature medicine | 2024-02-01 | PMID 38374346
Lennon Niall J, Kottyan Leah C, Kachulis Christopher and 74 more
Processing speed mediates the relationship between DDR1 and psychosocial functioning in euthymic patients with bipolar disorder presenting psychotic symptoms.
Molecular psychiatry | 2024-07-01 | PMID 38374360
Aranda Selena, Jiménez Esther, Canales-Rodríguez Erick J and 18 more
Genes: DDR1
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Communications biology | 2024-02-19 | PMID 38374434
Venner Eric, Patterson Karynne, Kalra Divya and 17 more
Population genetic analyses of Eastern Chinese Han nationality using ForenSeq™ DNA Signature Prep Kit.
Molecular genetics and genomics : MGG | 2024-02-20 | PMID 38374461
Tao Ruiyang, Dong Xinyu, Zhen Xiaoyuan and 5 more
Lowering mutant huntingtin by small molecules relieves Huntington's disease symptoms and progression.
EMBO molecular medicine | 2024-03-01 | PMID 38374466
Bahat Anat, Itzhaki Elad, Weiss Benjamin and 6 more
Genes: BDNF
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
European journal of human genetics : EJHG | 2024-06-01 | PMID 38374469
Ramzan Memoona, Zafeer Mohammad Faraz, Abad Clemer and 11 more
Genes: TOGARAM2
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clinical genetics | 2024-06-01 | PMID 38374498
Majethia Purvi, Kaur Namanpreet, Mascarenhas Selinda and 29 more
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
European journal of preventive cardiology | 2024-06-03 | PMID 38374534
D'Erasmo Laura, Bini Simone, Casula Manuela and 9 more